Since the completion of the human genome project in 2003, extraordinary progress has
been made in genome sequencing technologies, which has led to a decreased cost per …

Next-generation sequencing (NGS) technology has expanded in the last decades with
significant improvements in the reliability, sequencing chemistry, pipeline analyses, data …

Age-related change in human haematopoiesis causes reduced regenerative capacity,
cytopenias, immune dysfunction and increased risk of blood cancer,–, but the reason for …

Genome editing has therapeutic potential for treating genetic diseases and cancer.
However, the currently most practicable approaches rely on the generation of DNA double …

The Hi-C technique has been shown to be a promising method to detect structural variations
(SVs) in human genomes. However, algorithms that can use Hi-C data for a full-range SV …

The extent of somatic mutation and clonal selection in the human bladder remains unknown.
We sequenced 2097 bladder microbiopsies from 20 individuals using targeted (n= 1914 …

Mutation accumulation in somatic cells contributes to cancer development and is proposed
as a cause of aging. DNA polymerases Pol ε and Pol δ replicate DNA during cell division …

The progression of chronic liver disease to hepatocellular carcinoma is caused by the
acquisition of somatic mutations that affect 20–30 cancer genes,,,,,,–. Burdens of somatic …

INTRODUCTION The chromosome breakage-fusion-bridge (BFB) cycle is a catastrophic
mutational process, common during tumorigenesis, that results in gene amplification and …

Cancer is driven by genetic change, and the advent of massively parallel sequencing has
enabled systematic documentation of this variation at the whole-genome scale,–. Here we …